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D Gączarzewicz, J Udała, M Piasecka, B Błaszczyk, T Stankiewicz
This study was designed to determine the degree and type of bacterial contamination in boar semen (79 ejaculates from Large White and Landrace boars) and its consequences for sperm quality during storage (27 extended semen samples, 16°C for five days) under practical conditions of artificial insemination (AI). The results revealed the presence of aerobic bacteria in 99% of the ejaculates (from 80 to 370 ×106 colony-forming units/mL). Most of the ejaculates contained two or three bacterial contaminants, while the Staphylococcus, Streptococcus, and Pseudomonas bacterial genera were most frequently isolated...
September 1, 2016: Polish Journal of Veterinary Sciences
Paweł Stankiewicz
BACKGROUND: In contrast to Great Apes, who have 48 chromosomes, modern humans and likely Neandertals and Denisovans have and had, respectively, 46 chromosomes. The reduction in chromosome number was caused by the head-to-head fusion of two ancestral chromosomes to form human chromosome 2 (HSA2) and may have contributed to the reproductive barrier with Great Apes. RESULTS: Next generation sequencing and molecular clock analyses estimated that this fusion arose prior to our last common ancestor with Neandertal and Denisovan hominins ~ 0...
2016: Molecular Cytogenetics
Justyna A Karolak, Tomasz Gambin, Jose A Pitarque, Andrea Molinari, Shalini Jhangiani, Pawel Stankiewicz, James R Lupski, Marzena Gajecka
Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing to reduce the number of candidate genes at the 5q31.1-q35.3 locus and to prioritize other potentially relevant variants in an Ecuadorian family with KTCN. We applied WES in two affected KTCN individuals from the Ecuadorian family that showed a suggestive linkage between the KTCN phenotype and the 5q31...
October 5, 2016: European Journal of Human Genetics: EJHG
Monika Bekiesińska-Figatowska, Ewa Helwich, Magdalena Rutkowska, Joanna Stankiewicz, Iwona Terczyńska
INTRODUCTION: The authors present the first experience in neonatal magnetic resonance imaging (MRI) examinations using an MR compatible incubator (INC) at the Institute of Mother and Child. MATERIAL AND METHODS: Forty-nine examinations of 47 newborns (20 girls, 27 boys) were performed using the GE Signa HDxt 1.5T system and INC Nomag IC 1.5. Demographic data, anesthetic methods and MRI findings in the INC in comparison with previously performed imaging were analyzed...
October 1, 2016: Archives of Medical Science: AMS
Avinash V Dharmadhikari, Jenny J Sun, Krzysztof Gogolewski, Brandi L Carofino, Vladimir Ustiyan, Misty Hill, Tadeusz Majewski, Przemyslaw Szafranski, Monica J Justice, Russell S Ray, Mary E Dickinson, Vladimir V Kalinichenko, Anna Gambin, Pawel Stankiewicz
FOXF1 heterozygous point mutations and genomic deletions have been reported in newborns with a neonatally lethal lung developmental disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). However, no gain-of-function mutations in FOXF1 have been identified yet in human disease. To study the effects of FOXF1 overexpression in lung development, we generated a Foxf1 overexpression mouse model by knocking in a Cre-inducible Foxf1 allele into the ROSA26 (R26) locus. The mice were phenotyped using micro-computed tomography (micro-CT), head-out plethysmography, ChIP-seq and transcriptome analyses, immunohistochemistry, and lung histopathology...
September 16, 2016: Biology Open
Bogusław Mikaszewski, Karolina Markiet, Aneta Smugała, Dominik Stodulski, Edyta Szurowska, Czesław Stankiewicz
CONCLUSION: At least two groups of parotid malignancies exist, including one whose parameters of dynamic MRI closely resemble those of pleomorphic adenomas. Also tumors with long time to peak enhancement after administration of a contrast agent (Tpeak) and low washout rate (WR) should be considered malignant, especially single masses with concomitant lymphadenopathy located within the deep parotid lobe. OBJECTIVE: To verify if malignant tumors of the parotid are homogeneous in terms of parameters of preoperative dynamic MRI: Tpeak and WR...
September 14, 2016: Acta Oto-laryngologica
Moogeh Baharnoori, Jennifer Lyons, Akram Dastagir, Igor Koralnik, James M Stankiewicz
No abstract text is available yet for this article.
October 2016: Neurology® Neuroimmunology & Neuroinflammation
Xueying Mao, Fei Luo, Lara K Boyd, Bowei Zhou, Yanling Zhang, Elzbieta Stankiewicz, Jacek Marzec, Natasa Vasiljevic, Yongwei Yu, Ninghan Feng, Jia Xu, Attila Lorincz, Yong Jiang, Claude Chelala, Guoping Ren, Daniel M Berney, Shan-Chao Zhao, Yong-Jie Lu
Recurrent chromosome breakpoints at 6q22.31, leading to truncation and potential loss-of-function of the NKAIN2 gene, in Chinese prostate cancer patients were previously identified. In this study we investigated genomic, methylation and expression changes of NKAIN2 in a large number of prostate cancer samples and determined its functional role in prostate cancer cells. Fluorescence in situ hybridization analysis confirmed that NKAIN2 truncation is specific to Chinese while deletion of the gene is frequent in both Chinese and UK prostate cancers...
August 30, 2016: Oncotarget
Sylvère Störmann, Melanie Stankiewicz, Patricia Raes, Christina Berchtold, Yvonne Kosanke, Gabrielle Illes, Peter Loose, Matthias W Angstwurm
INTRODUCTION: The clinical examination and other practical clinical skills are fundamental to guide diagnosis and therapy. The teaching of such practical skills has gained significance through legislative changes and adjustments of the curricula of medical schools in Germany. We sought to find out how well final year undergraduate medical students master practical clinical skills. METHODS: We conducted a formative 4-station objective structured clinical examination (OSCE) focused on practical clinical skills during the final year of undergraduate medical education...
2016: GMS Journal for Medical Education
M Mizerska-Wasiak, A Turczyn, A Such, K Cichoń-Kawa, J Małdyk, M Miklaszewska, J Pietrzyk, A Rybi-Szumińska, A Wasilewska, A Firszt-Adamczyk, R Stankiewicz, M Szczepańska, B Bieniaś, M Zajączkowska, A Pukajło-Marczyk, D Zwolińska, K Siniewicz-Luzeńczyk, M Tkaczyk, K Gadomska-Prokop, R Grenda, U Demkow, M Pańczyk-Tomaszewska
IgA nephropathy (IgAN) is the most common form of glomerulonephritis in pediatric population. The clinical presentation of the disease in children ranges from microscopic hematuria to end-stage kidney disease. The aim of the study was to retrospectively assess clinical and kidney biopsy features in children with IgAN. We assessed a cohort of 140 children, 88 boys, 52 girls with the diagnosis of IgAN in the period of 2000-2015, entered into the national Polish pediatric IgAN registry. The assessment included the following: proteinuria, hematuria, glomerular filtration rate (GFR), arterial blood pressure, and the renal pathological changes according to the Oxford classification and crescents formation, as modifiable and unmodifiable risk factors...
August 30, 2016: Advances in Experimental Medicine and Biology
E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, J Boyle, M Leffler, M Raynaud, C Moraine, H van Bokhoven, T Kleefstra, K Kahrizi, H Najmabadi, H-H Ropers, M R Delgado, D Sirsi, S Golla, A Sommer, M P Pietryga, W K Chung, J Wynn, L Rohena, E Bernardo, D Hamlin, B M Faux, D K Grange, L Manwaring, J Tolmie, S Joss, J M Cobben, F A M Duijkers, J M Goehringer, T D Challman, F Hennig, U Fischer, A Grimme, V Suckow, L Musante, J Nicholl, M Shaw, S P Lodh, Z Niu, J A Rosenfeld, P Stankiewicz, T J Jentsch, J Gecz, M Field, V M Kalscheuer
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported)...
August 23, 2016: Molecular Psychiatry
Dagmara Bartczak, Łukasz Szymański, Paweł Bodera, Wanda Stankiewicz
AIM OF THE STUDY: Due to their prevalence and negative social effects, cardiovascular diseases belong to a group of civilization diseases. Previous research suggests comorbidity of heart diseases, mood disorders and impaired cognitive functioning. The aim of this study was to evaluate the psychoneuroimmunological aspects of functioning in patients diagnosed with cardiovascular diseases. MATERIAL AND METHODS: Ten persons, mean age 48.2 years old, diagnosed with primary hypertension, were studied...
2016: Central-European Journal of Immunology
K Stankiewicz, M Cohen, M Carone, G Sevinc, P G Nagy, J S Lewin, D M Yousem, L S Babiarz
BACKGROUND AND PURPOSE: Trainees' interpretations of neuroradiologic studies are finalized by faculty neuroradiologists. We aimed to identify the factors that determine the degree to which the preliminary reports are modified. MATERIALS AND METHODS: The character length of the preliminary and final reports and the percentage character change between the 2 reports were determined for neuroradiology reports composed during November 2012 to October 2013. Examination time, critical finding flag, missed critical finding flag, trainee level, faculty experience, imaging technique, and native-versus-non-native speaker status of the reader were collected...
July 28, 2016: AJNR. American Journal of Neuroradiology
Lyn Stankiewicz Murphy, M Lindell Joseph
Kenneth Rempher, PhD, MBA, CENP, RN, is the chief nursing officer for the University of Iowa (UI) Hospitals and Clinics. In his 20-year career, he has distinguished himself as a visionary healthcare leader. Colleagues describe Dr Rempher as a strong, transformational leader, guiding the UI enterprise through a time of uncertainty and change. This interview by the CGEAN provides insight to his leadership style, successes, and ideas on the future of care delivery.
July 2016: Journal of Nursing Administration
M D Banks, L J Ross, J Webster, A Mudge, M Stankiewicz, K Dwyer, K Coleman, J Campbell
OBJECTIVE: To investigate the feasibility of recruitment, retention, intervention delivery and outcome measurement in a nutritional intervention to promote pressure ulcer healing in an acute setting. METHOD: Some 50 tertiary hospital patients with stage II or greater pressure ulcer were randomised to receive either individualised nutritional care by a dietitian, including prescription of wound healing supplements; or standard nutritional care. Relevant nutritional and pressure ulcer (PU) parameters were collected at day 5, 10, 15, 22 and then weekly or until discharge...
July 2, 2016: Journal of Wound Care
Rafał Stankiewicz, Zbigniew Lewandowski, Marcin Kotulski, Waldemar Patkowski, Marek Krawczyk
BACKGROUND Fractionated plasma separation and absorption (FPSA) is an extracorporeal liver support method that detoxifies accumulated toxins. There are limited data of its use in the treatment of Amanita phalloides intoxication. The objective of this study was to investigate whether FPSA before liver transplantation improves patients' short-term post liver transplantation survival in Amanita phalloides poisoning. MATERIAL AND METHODS The study population consisted of ten patients who had liver transplantation (LT) due to acute liver failure (ALF) caused by Amanita phalloides poisoning...
2016: Annals of Transplantation: Quarterly of the Polish Transplantation Society
Krzysztof Kiciński, Bogusław Mikaszewski, Czesław Stankiewicz
Pleomorphic adenoma is the most frequent benign tumor of the salivary glands. It is characterized by a tendency to recur, which is determined by the biological characteristics of the tumor as well as the mode of its treatment. Recurrence of the tumor is associated with a high risk of postoperative facial palsy, risk of subsequent recurrence after revision surgery, and an increased risk of malignant transformation. Knowledge of the recurrence risk factors could allow selection of treatments that minimize the risk...
February 29, 2016: Otolaryngologia Polska. the Polish Otolaryngology
Przemyslaw Szafranski, Zeynep H Coban-Akdemir, Rosemarie Rupps, Serge Grazioli, David Wensley, Shalini N Jhangiani, Edwina Popek, Anna F Lee, James R Lupski, Cornelius F Boerkoel, Paweł Stankiewicz
Mutations in the T-box transcription factor TBX4 gene have been reported in patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood-onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo TBX4 missense mutation p.E86Q (c.256G>C) in the DNA-binding T-box domain. We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs...
September 2016: American Journal of Medical Genetics. Part A
Beata Kiec-Wilk, Bartlomiej Matejko, Urszula Razny, Magdalena Stankiewicz, Jan Skupien, Tomasz Klupa, Maciej T Malecki
BACKGROUD: Glycemic control may be associated with inflammatory status in type 1 diabetes (T1DM). We examined the association between glucose control parameters and circulating inflammation markers in T1DM. METHODS: The study included 101 T1DM patients treated with personal insulin pumps (T1DM duration 15.2 + 7.3 years). The analysed glycemic parameters included HbA1c, mean glucose level, standard deviation and number of hypoglycemic episodes (glucose <55 mg/dL) from the last 7 days...
August 2016: Atherosclerosis
Valerie Maduro, Barbara N Pusey, Praveen F Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R Adams, Samarth S Bhatt, Patrice Eydoux, Amanda E Links, Anna Lehman, May C Malicdan, Christopher E Mason, Marie Morimoto, James C Mullikin, Andrew Sear, Clara Van Karnebeek, Pawel Stankiewicz, William A Gahl, Camilo Toro, Cornelius F Boerkoel
BACKGROUND: Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild intellectual disability with a chromosomal translocation disrupting TCF4. RESULTS: Using whole genome sequencing, we detected a complex unbalanced karyotype disrupting TCF4 (46,XY,del(14)(q23...
2016: Orphanet Journal of Rare Diseases
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